Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs191930922
rs191930922
TBX2
1 1.000 17 61408214 missense variant G/A snv 8.2E-04 3.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs201325654
rs201325654
TBX3
1 1.000 12 114674250 missense variant G/A snv 1.4E-03 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
3 0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 0.010 1.000 1 2011 2011
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs764896880
rs764896880
TBX2
1 1.000 17 61408189 missense variant C/A;T snv 8.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs766774041
rs766774041
CITED2
1 1.000 6 139373176 missense variant T/C snv 2.8E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs768160499
rs768160499
TBX3 ; LOC105370000
1 1.000 12 114680962 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs353292
rs353292
MIR143 ; CARMN
3 0.882 0.080 5 149428245 non coding transcript exon variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs4705343
rs4705343
MIR143 ; CARMN
7 0.790 0.240 5 149428518 non coding transcript exon variant T/C snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs4808870
rs4808870
GDF1 ; CERS1
1 1.000 19 18878511 3 prime UTR variant T/C snv 0.91 0.010 1.000 1 2013 2013
dbSNP: rs10495098
rs10495098 		1 1.000 1 218342968 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3087465
rs3087465
TGFBR2 ; LOC105377015
3 1.000 3 30605668 upstream gene variant A/G;T snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs6545278
rs6545278 		2 0.925 0.080 2 52478914 upstream gene variant T/G snv 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs12109442
rs12109442 		1 1.000 5 95827931 downstream gene variant T/A snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs17085159
rs17085159 		1 1.000 5 95831293 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6458939
rs6458939 		1 1.000 6 53495838 downstream gene variant C/A;G snv 0.010 1.000 1 2014 2014